MIPEP

mitochondrial intermediate peptidase
OMIM: 602241, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green MIPEP in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Combined oxidative phosphorylation deficiency 31, MIM# 617228

Green MIPEP in Mitochondrial disease


Level 2: Metabolic disorders
Version 0.927

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Combined oxidative phosphorylation deficiency 31, MIM# 617228

    Green MIPEP in Cardiomyopathy_Paediatric


    Level 2: Cardiovascular disorders
    Version 0.192

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Combined oxidative phosphorylation deficiency 31, MIM# 617228
    • cardiomyopathy
    • left ventricular noncompaction
    • seizures
    • hypotonia
    • dev delay
    • cataracts